Williams Syndrome ( "ntsej muag Elf"): ua, cov tsos mob, kev kho mob

Williams Syndrome, ua rau, mob, kev kho mob ntawm cov uas yuav muab suav hais tias nyob rau hauv no tsab xov xwm, yog heev tsawg congenital kho raws, tus thawj ua cov uas tseem tsis tau muaj peev xwm mus rau unravel lub soj ntsuam. Nws lub npe hu ua nyob rau hauv Honor ntawm J. kho plawv. Williams, uas piav txog nyob rau hauv kom meej nyob rau hauv 1961. Tab sis lub npe, vim hais tias ntawm cov yam ntxwv ntawm cov tsos ntawm cov neeg mob, feem ntau ntxiv lwm "lub ntsej muag Elf."

Vim hais tias ntawm yog dab tsi muaj pathology

Williams Syndrome ( "ntsej muag Elf") - yog ib tug kev tshuaj ntsuam genetic kab mob txuam nrog kev txawv txav nyob rau hauv chromosomal fetus. Namely, nrog rau tsis feem (deletion) xya chromosome. Cov poob lub thiaj li hu ua "ntev caj npab ntawm chromosome" muaj txog 26 noob uas txuam nrog rau cov yam ntxwv nta ntawm tus mob (txawm hais tias qhov no yog tsis tau feem ntau ntawm lawv sib txuas lus nrog uas twb muaj lawm nyob rau hauv kab mob cov tsos mob).

Dhau li ntawm tus fact tias cov puas ib feem ntawm ib chromosome yog cov noob lub luag hauj lwm rau li cas nws yuav tsim thiab khiav lag luam hauv lub hlwb, tseem muaj noob rau lub synthesis ntawm cov protein elastin. Thiab qhov no ua rau lub fact tias cov me nyuam nrog rau cov piav syndrome tshwm sim tsis tau tsuas yog tus cwj pwm, kev txawj ntse thiab lub hlwb muaj teeb meem, tab sis kuj vascular txawv txav, thiab congenital plawv tus kab mob (stenosis ntawm lub aorta thiab lub pulmonary leeg, uas tej zaum yuav tshwm sim zuj zus los yog ua ke) .

Yuav ua li cas yog cov neeg mob uas Williams syndrome

Zoo li cov neeg mob Williams ( "Elf neeg") syndrome yog yus muaj los ntawm tshwj xeeb nta:

• lawv muaj tsawg-set ob lub qhov muag, surrounded los ntawm o muag daj (uas yog tshwj xeeb tshaj yog noticeable thaum ib tug neeg luag);
• ib tug loj lub qhov ncauj nrog rau tag nrho ob daim di ncauj thiab overbite;
• sab heev hauv pliaj;
• luv luv lub qhov ntswg, nrog ib tug ca lub qhov ntswg choj thiab round blunt ntsis;
• puab tsaig me ntsis taw;
• tsawg-set pob ntseg;
• convex sab nraum qab ntawm lub taub hau;
• kaj xiav ob lub qhov muag (eyeballs, dhau lawm, muaj ib tug xiavlus zas)

Lub suab ntawm cov neeg mob mas feem ntau yog cov uas tsis muaj thiab husky.

Tab sis tsis yog txhua txhua ntawm cov nta tau muaj nyob rau hauv ib tug neeg. Nws yog txaus kom muaj peb ntau nta kom meej mob ntawm tus kab mob no.

Yuav ua li cas kom paub txog Williams syndrome ( "fim Elf")

Sib nrug los ntawm tus yam ntxwv zoo li, nyob rau hauv cov neeg mob uas Williams syndrome thiab tshwj xeeb yog cim kev loj hlob ntawm ntau dua tshee zog, uas muab ntxiv rau kev nta nyob rau hauv lub siab.

1. Kev ua txhaum piav thoob hlo kev koom ua ke (cov txheej txheem nyob rau hauv uas lub paj hlwb tau txais Pib ntsais koj teeb ntawm lub tactile, vestibular, tsis hnov tsw, pom, saj thiab lub rooj sib hais). Nyob rau hauv cov ntaub ntawv no, lub suab rhiab heev yog nce nyob rau hauv cov neeg mob.
2. Cov neeg mob yog lam ua thiab yooj yim excitable, heev sociable (tej zaum txawm obsessively), lawv mus ob peb vas yog tsis ruaj tsis khov (nyob rau hauv cov tshuaj no feature yog piav raws li lub siab lub ntsws lability).
3. Lawv cai nce ntxhov siab vim, kev ntshai swept tag nrho cov tshiab.
4. Yus mob ntawm suab hais muaj peev xwm (kev paub qhia lo lus) thiab lub xaav ntawm dab tsi tau hais tias (impressive hais lus).
5. Thaum lub sij hawm txoj kev kawm, cov neeg mob hnov teeb meem nrog kev zom nrog zauv ua hauj lwm.

Nyob rau hauv no txoj kev manifests nws tus kheej kev puas hlwb ruamqauj nyob rau hauv cov me nyuam, nws zoo nkaus li txawv txawv. Lawv hais lus feem ntau yog zoo tsim rau lawv lub hnub nyoog, kev paub qhia lo thiab sab kev xav dawb, nyob rau hauv tas li ntawd, lawv pom cuab suab paj nruas txuj ci: zoo meej suab, zoo siab ntawm atherosclerosis thiab ib tug zoo meej suab paj nruas nco. Lawv yuav kam nrog painstakingly ntev lub sij hawm ua si seev suab paj nruas los yog mloog tej hauj lwm, tab sis nyuam qhuav siab rau tej yam.

Tshwj xeeb yog psychology ntawm cov neeg mob nrog 'syndrome Elf "

Ib tug ntawm cov koj zoo ntawm "Elf" yog lawv sociability. Cov me nyuam txom nyem los ntawm no syndrome, tsis muaj kev ntshai ntawm nce ib tug neeg txawv, yooj yim manifest txoj kev khuv leej thiab ib txwm txaus siab pab. Lawv hais lus babbling dej, lawv luag nyav thiab tus phooj ywg. Cov soj ntsuam ntawm piav no feature ntawm cov specifics ntawm lub amygdala ntawm lub paj hlwb hauv lub cev, vim hais tias cov neeg uas cov neeg no yog heev nkag siab zoo qhia ntawm lub interlocutor, thiab vicious mimicry tsuas tsis paub.

Yog hais tias koj tus me nyuam thiaj paub tias yog "lub ntsej muag Elf" (Williams syndrome), koj paub tias - nws yuav tsum tau ib tug ncaj qha naïve tus me nyuam uas tsis tau coj mus rau hauv tus account qhov teeb meem no thiab nws ruam. Tab sis nws kev txawj ntse tsis ua hauj lwm, nws yuav masquerade li kuj fwm lus ua si thiab zoo articulation, txawm hais tias feem ntau cov me nyuam hais lus cia, rhuav lub semantic nam ntawm lub foregoing.

Ib tug ob peb ntau nthuav nta ntawm "Elf"

Soj ntsuam kev kawm Williams ( "ntsej muag Elf") syndrome, ua rau, cov tsos mob ntawm tus kab mob, pom hais tias cov neeg txom nyem los ntawm nws muaj huab selectivity nyob rau hauv lub xaav ntawm lub nrig txog kev pom ntaub ntawv tau txais.

Yog li ntawd, yog tias koj qhia tus neeg mob no yees duab tsheb kauj vab thiab muaj rau redraw cov duab, ces nws yuav ua li cas nws nrog cov zoo neeg, tsis muaj ploj lawm ib zaug xwb nthuav dav. Yeej muaj tseeb, lub kauj log, lub log thiab pedals tawg ri niab lawm rau tag nrho cov daim ntawv. Tab sis thaum tib neeg ua hauj lwm koj yuav tsum tau ua nrog rau cov duab ntawm ib tug neeg lub ntsej muag, nws yuav sawv, contriving, nyob rau hauv tas li ntawd, photography yog tsis zuj zus tshaj ib tug zoo kev puas siab ntsws muab qhov xwm ntawm tus txiv neej.

Cov kab mob uas nrog tus "Elf syndrome"

Tu siab, tus kab mob "ntsej muag Elfa" (Williams syndrome) yog manifested nyob rau hauv ib tug ntau yam ntawm kev txawv txav nrog lwm tus kab mob. Yog li, nyob rau hauv cov me nyuam nrog rau qhov no tsis meej yuav cov hniav tuaj lig, tiam sis nyob rau hauv adulthood lawv saib elongated thiab tsis tshua muaj. Dhau li ntawd, cov neeg mob muaj ib tug ib txwm mus lwj, tawg tom, thiab txheej membrane folds lub puab tsaig hloov.

Cov me nyuam nrog rau cov syndrome npe nyob rau hauv thawj xyoo ntawm lub neej yog txom nyem heev mus nce hnyav thiab loj hlob maj mam, tab sis tom qab ntau ntawm lawv yog cov kom tiav thiab txawv lub cev looseness. Ua ntej xyoo malyshi- "elves" yog kev txom nyem los ntawm giprekaltsiemii uas tsim vim ntau zog haum ntawm calcium los ntawm cov hnyuv.

Nyob rau hauv neeg laus cov neeg mob yuav suav hais tias ib tug yam ntxwv feature, thiab X-zoo li tus ob txhais ceg npe nrov, nqaim qab plab, tsis tshua muaj lub duav rov sauv thiab elongated lub caj dab. Williams Syndrome ( "ntsej muag Elf") feem ntau nrog thiab ntau yooj ntawm cov pob qij txha, uas yog manifested nyob rau hauv lawv nce razgibaemosti thiab flatfoot thiab clubfoot. Thiab pom ntau yam kev ua txhaum ntawm lub licas. Heev feem ntau txoj hlab thiab inguinal hernia, nyob rau hauv ib co neeg mob - ib tug congenital dislocation ntawm lub duav.

Yuav ua li cas yog "Elf syndrome"

Cov neeg mob uas muaj tus mob ntawm "Williams syndrome (Elf tus neeg)" kev kho mob tau txais tsuas yog ib lub symptomatic txoj kev kho, raws li kev tshuaj ntsuam genetic kab mob nta muaj tsis muaj ib yam kev kho mob.

Rau cov me nyuam mos mus tsev kho mob nrog ib tug loj heev hypercalcemia, xeem glucocorticoids ( "hydrocortisone") thiab cov laus cov neeg mob feem ntau yog pom zoo kom mus xyuas ntawm calcium ntau nyob rau hauv cov ntshav thiab kom tsawg ntawm cov vitamin D, uas nyob rau hauv tus calcium theem nce.

Cov me nyuam nrog rau cov syndrome npe yuav tsum tau strengthening zaug nrog ib tug psychologist. Tiv tauj nrog noj qab nyob zoo rau cov me nyuam no kuj yog rau cov neeg mob no tseem ceeb heev, raws li nws tsim ib tug zoo qauv nyob rau hauv lub zuag qhia tag nrho kev loj hlob rau lawv.

outlook

Cov neeg mob mob Williams ( "ntsej muag Elf") syndrome, yuav nyob me ntsis tsawg tshaj li tib yam cov neeg. Kws txawj cwj pwm no mus rau lub kuj theem ntawm calcium nyob rau hauv cov ntshav, entailing thaum ntxov calcification ntawm cov hlab ntsha thiab lub plawv nqaij. Thiab nyob rau hauv 75% ntawm cov neeg mob kuj muaj ib tug narrowing ntawm lub aorta cia li saum toj no lub lub siab hais tias yuav tsum tau phais nyob rau hauv tej rooj plaub. Los ntawm txoj kev, vim lub high kev pheej hmoo ntawm cov hlab plawv tus kab mob npe hu cov neeg mob pom zoo mus kuaj ib ce.